- exploit knowledge of the fundamental principles of molecular biology to analyze contributions of DNA and proteins to human physiology and behavior
- identify, select, and query the appropriate database to best answer the bioinformatics question at hand, and effectively and accurately interpret the outcome
- use information gained from the application of bioinformatics to appreciate its impact on proteomics, epidemiology, and evolutionary biology
- recognize current and emerging technical challenges and areas of innovation inherent in the field of bioinformatics to target career opportunities and development
For the final project, you will use the gene you identified in the gene annotation project and the protein used in protein annotation project to:
- Identify the diseases implicated by your gene: genomic features at the gene level. i.e SNPs
- Identify the diseases implicated at protein level: mutations at protein and structural levels: could include variations in amino acid, motifs, functions etc.
Select one disease either at the gene or protein level and provide more detailed discussion on:
- Briefly explain the disease mechanism as it relates to the gene/protein
- The bioinformatics approaches used to identify the specific genomic features implicated
- Identify and discuss the bioinformatics and data analysis tools to identify the implicated genomic features the disease.
- Discuss the drug targets identified if any implicated pathway
General requirements:
- Screenshots must be provided for the tools used.
- Minimum number of pages is 3 and maximum is 6 pages (750 – 1500 words)
- Must include references
- It must be written in a research paper format including an abstract and title.
| Content | Excellent | Very Good | Good | Fair | Poor |
| Points | 4 | 3 | 2 | 1 | 0 |
| General Requirements | All the general requirements are met | Most of the general requirements are met | Some of the general requirements are met | A few general requirements are met | no answer |
| Abstract | Very well written abstract indicating what the paper is about | Good abstract | Fairly-written abstract | Very vague abstract not indicating what the paper is about | no answer |
| Disease identification | Identifies diseases and the genomic features at both gene and protein levels | Identifies at the diseases and implicated genomic features only at either protein or gene level | Identifies diseases at both protein and gene level but not the genomic features | Identifies the diseases only at either gene or protein levels and no genomic features | no answer |
| Disease mechanism | Very well written description of the disease mechanism | Good description of the disease mechanism | Fair description of the disease mechanism | Vague description of the disease mechanism | no answer |
| Bioinformatics approaches | Clearly describes the bioinformatics approaches | Good description of the bioinformatics approaches | Fair description of the bioinformatics approaches | Vague description of the bioinformatics approaches | No answer |
| Bioinformatics and data analysis tools | Correct and good discussion identification of bioinformatics & data analysis tool | Correct tools are identified and fairly -discussed | Correct tools are identified but no discussion | Identified tools cannot be used for identifying implicated genomic features in the selected disease | No answer |
| Drug targets & pathways | Identifies the correct drug targets and the implicated pathways | Identifies the drug targets but not the pathways | Identifies the pathway but no drugs | Wrong identifications of pathways and drug targets | No answer |